Identification of a novel frameshift mutation in the giant muscle filament titin in a large Australian family with dilated cardiomyopathy

Journal of Molecular Medicine

Volumn 84, Issue 6, 2006, Pages 478-483

  Gerull, Brenda ^a,b   Atherton, John ^c   Geupel, Anke ^a,b   Sasse Klaassen, Sabine ^a   Heuser, Arnd ^a   Frenneaux, Michael ^d   McNabb, Mark ^e   Granzier, Henk ^e   Labeit, Siegfried ^f   Thierfelder, Ludwig ^a,b  

^a MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^b HUMBOLDT UNIVERSITY   (Germany)

^c UNIVERSITY OF QUEENSLAND   (Australia)

^d UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^e WASHINGTON STATE UNIVERSITY   (United States)

^f UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Dilated cardiomyopathy; Frameshift mutation; Titin

Indexed keywords

AMINO ACID; CONNECTIN; DNA A; ISOPROTEIN; MESSENGER RNA;

ADULT; AGED; ARTICLE; AUSTRALIA; CHROMOSOME 2Q; CHROMOSOME ABERRATION; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; CONGESTIVE CARDIOMYOPATHY; CONTROLLED STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE EXPRESSION; GENETIC IDENTIFICATION; GENETIC LINKAGE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MUSCLE BIOPSY; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PEDIGREE; PENETRANCE; PHENOTYPE; PREDICTION; PROTEIN ANALYSIS; PROTEIN DEGRADATION; PROTEIN PROCESSING; PROTEIN STRUCTURE; SAMPLE; SKELETAL MUSCLE; STOP CODON;

ADULT; AGED; AGED, 80 AND OVER; AUSTRALIA; CARDIOMYOPATHY, DILATED; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; FRAMESHIFT MUTATION; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; PEDIGREE; PROTEIN DENATURATION; PROTEIN KINASES; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 33744495726     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-006-0060-6     Document Type: Article

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